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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital secretory sodium diarrhea 8
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Accession:DOID:0060777 term browser browse the term
Definition:A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. (DO)
Synonyms:exact_synonym: CSD;   DIAR8;   congenital sodium diarrhea
 primary_id: OMIM:616868
 xref: ORDO:103908
For additional species annotation, visit the Alliance of Genome Resources.


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congenital secretory sodium diarrhea 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Diarrhea 8, secretory sodium, congenital ClinVar
OMIM
PMID:3880821 PMID:25741868 PMID:26358773 PMID:31276831 NCBI chr 1:31,731,652...31,777,144
Ensembl chr 1:31,734,327...31,777,070
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital diarrhea 10
        congenital secretory sodium diarrhea 8 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                congenital secretory sodium diarrhea 8 1
paths to the root